Details of Disease

General Information of Disease (ID: DISMH59P)

• Disease Name: Renal hypomagnesemia 5 with ocular involvement
• Synonyms: macular coloboma, bilateral, with hypercalciuria; hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement; HOMG5; hypomagnesemia 5, renal, with ocular involvement; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; hypomagnesemia, renal, with ocular involvement; idiopathic hypercalciuria with bilateral macular colobomata; Meier Blumberg Imahorn syndrome; Meier-Blumberg-Imahorn syndrome; FHHNCOI; FHHNC with severe ocular involvement; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; bilateral macular coloboma with hypercalciuria; hypercalciuria-bilateral macular coloboma syndrome
• Definition: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.
• Disease Hierarchy:
  DISEYSYY: Hereditary macular dystrophy
  DIS8KHST: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
  DISMH59P: Renal hypomagnesemia 5 with ocular involvement
• Disease Identifiers:
  MONDO ID: MONDO_0009548
  UMLS CUI: C4721891
  OMIM ID: 248190
  MedGen ID: 1648449
  Orphanet ID: 2196

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLDN19	OTVD6IBL	Definitive	Mitochondrial	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.